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Journal Abstract Search

134 related items for PubMed ID: 21728810

  • 1. A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
    Aliferis K, Stoetzel C, Pelletier V, Hellé S, Angioï-Duprez K, Vigneron J, Leheup B, Marion V, Dollfus H.
    Ophthalmic Genet; 2011 Nov; 32(4):250-5. PubMed ID: 21728810
    [Abstract] [Full Text] [Related]

  • 2. A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
    Dumitrescu AV, Milunsky JM, Longmuir SQ, Drack AV.
    Ophthalmic Genet; 2012 Jun; 33(2):100-6. PubMed ID: 22191992
    [Abstract] [Full Text] [Related]

  • 3. A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
    Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR.
    Ann Hum Genet; 2015 Mar; 79(2):148-52. PubMed ID: 25590586
    [Abstract] [Full Text] [Related]

  • 4. [Branchio-oculo-facial syndrome].
    Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J.
    Ann Dermatol Venereol; 2012 Mar; 139(8-9):550-4. PubMed ID: 22963965
    [Abstract] [Full Text] [Related]

  • 5. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
    Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H.
    Am J Med Genet A; 2009 Oct; 149A(10):2141-6. PubMed ID: 19764023
    [Abstract] [Full Text] [Related]

  • 6. Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.
    Günes N, Cengiz FB, Duman D, Dervişoğlu S, Tekin M, Tüysüz B.
    Genet Couns; 2014 Oct; 25(1):41-7. PubMed ID: 24783654
    [Abstract] [Full Text] [Related]

  • 7. Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
    Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE.
    Am J Med Genet A; 2011 Jan; 155A(1):22-32. PubMed ID: 21204207
    [Abstract] [Full Text] [Related]

  • 8. TFAP2A mutations result in branchio-oculo-facial syndrome.
    Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE.
    Am J Hum Genet; 2008 May; 82(5):1171-7. PubMed ID: 18423521
    [Abstract] [Full Text] [Related]

  • 9. Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
    Li H, Sheridan R, Williams T.
    Hum Mol Genet; 2013 Aug 15; 22(16):3195-206. PubMed ID: 23578821
    [Abstract] [Full Text] [Related]

  • 10. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
    Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK.
    Hum Genet; 2009 Dec 15; 126(6):791-803. PubMed ID: 19685247
    [Abstract] [Full Text] [Related]

  • 11. Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.
    Titheradge HL, Patel C, Ragge NK.
    Clin Dysmorphol; 2015 Jan 15; 24(1):13-6. PubMed ID: 25325185
    [Abstract] [Full Text] [Related]

  • 12. Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
    Al-Dosari MS, Almazyad M, Al-Ebdi L, Mohamed JY, Al-Dahmash S, Al-Dhibi H, Al-Kahtani E, Al-Turkmani S, Alkuraya H, Hall BD, Alkuraya FS.
    Mol Vis; 2010 May 08; 16():813-8. PubMed ID: 20461149
    [Abstract] [Full Text] [Related]

  • 13. An Unconventional Presentation of Branchio-Oculo-Facial Syndrome.
    Yi S, Albino FP, Wood BC, Sauerhammer TM, Rogers GF, Oh AK.
    J Craniofac Surg; 2016 Sep 08; 27(6):1412-4. PubMed ID: 27607113
    [Abstract] [Full Text] [Related]

  • 14. [Genetic analysis of a Chinese pedigree affected with Branchio-oculo-facial syndrome and a literature review].
    Li K, Sun H, Guo Y, Sun G, Duan H, Kong X, Liu N.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Sep 10; 41(9):1084-1089. PubMed ID: 39217487
    [Abstract] [Full Text] [Related]

  • 15. Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.
    Galliani E, Burglen L, Kadlub N, Just W, Sznajer Y, de Villemeur TB, Soupre V, Picard A, Vazquez MP.
    Cleft Palate Craniofac J; 2012 May 10; 49(3):357-64. PubMed ID: 21539471
    [Abstract] [Full Text] [Related]

  • 16. TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome.
    Si-Min Ng P, Khan S, Lim JY, Chew-Yin Goh J, Lin GX, Wei H, Tan EC, Jamuar SS.
    Clin Dysmorphol; 2019 Oct 10; 28(4):215-218. PubMed ID: 31490282
    [No Abstract] [Full Text] [Related]

  • 17. Ocular manifestations in a family with brachio-oculo-facial syndrome.
    Martens R, Espinosa LAC, Prakhunhungsit S, Berrocal AM.
    J AAPOS; 2019 Jun 10; 23(3):180-182. PubMed ID: 30822509
    [Abstract] [Full Text] [Related]

  • 18. Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?
    Richardson E, Davison C, Moore AT.
    Ophthalmic Genet; 1996 Jun 10; 17(2):59-65. PubMed ID: 8832722
    [Abstract] [Full Text] [Related]

  • 19. A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report.
    Min J, Mao B, Wang Y, He X, Gao S, Wang H.
    Front Pediatr; 2020 Jun 10; 8():380. PubMed ID: 32766183
    [Abstract] [Full Text] [Related]

  • 20. Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
    Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W.
    Am J Med Genet A; 2010 Apr 10; 152A(4):994-9. PubMed ID: 20358615
    [Abstract] [Full Text] [Related]

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